AFG1L

Summary

AFG1L (AFG1 like ATPase, HGNC:16411) is a protein-coding gene on chromosome 6q21, encoding AFG1-like ATPase (Q8WV93). Putative mitochondrial ATPase.

This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 246269 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 101 total — 11 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_145315

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16411
Approved symbol	AFG1L
Name	AFG1 like ATPase
Location	6q21
Locus type	gene with protein product
Status	Approved
Aliases	AFG1
Ensembl gene	ENSG00000135537
Ensembl biotype	protein_coding
OMIM	617469
Entrez	246269

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000368977, ENST00000421954, ENST00000430458, ENST00000431865, ENST00000437715, ENST00000481842, ENST00000486863, ENST00000908136, ENST00000908137, ENST00000908138, ENST00000908139, ENST00000908140, ENST00000908141, ENST00000908142, ENST00000955934

RefSeq mRNA: 2 — MANE Select: NM_145315 NM_001323005, NM_145315

CCDS: CCDS5067

Canonical transcript exons

ENST00000368977 — 13 exons

Exon	Start	End
ENSE00000919019	108346988	108347039
ENSE00000919020	108355654	108355755
ENSE00001448510	108295054	108295218
ENSE00001899405	108522297	108526001
ENSE00002167115	108366233	108366332
ENSE00002179833	108401996	108402054
ENSE00002201431	108356690	108356820
ENSE00003495504	108447214	108447296
ENSE00003496351	108519697	108519810
ENSE00003533096	108510212	108510352
ENSE00003538869	108477192	108477292
ENSE00003546718	108476865	108476935
ENSE00003699226	108323825	108324048

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 87.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5128 / max 65.7214, expressed in 1747 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69185	3.8950	1580
69184	1.3243	780
69183	1.2882	726
69187	0.0052	3

Top tissues by expression

243 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	87.57	gold quality
right testis	UBERON:0004534	87.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.68	gold quality
testis	UBERON:0000473	83.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.61	gold quality
adrenal tissue	UBERON:0018303	79.21	gold quality
ventricular zone	UBERON:0003053	76.71	gold quality
muscle of leg	UBERON:0001383	76.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	76.51	gold quality
gastrocnemius	UBERON:0001388	76.50	gold quality
calcaneal tendon	UBERON:0003701	75.40	gold quality
islet of Langerhans	UBERON:0000006	75.24	gold quality
right adrenal gland cortex	UBERON:0035827	74.31	gold quality
cortical plate	UBERON:0005343	74.19	gold quality
right adrenal gland	UBERON:0001233	74.10	gold quality
apex of heart	UBERON:0002098	74.09	gold quality
ganglionic eminence	UBERON:0004023	73.87	gold quality
colonic epithelium	UBERON:0000397	73.72	gold quality
heart left ventricle	UBERON:0002084	73.53	gold quality
right atrium auricular region	UBERON:0006631	72.96	gold quality
rectum	UBERON:0001052	72.95	gold quality
left adrenal gland	UBERON:0001234	72.77	gold quality
stromal cell of endometrium	CL:0002255	72.60	gold quality
cardiac ventricle	UBERON:0002082	72.41	gold quality
cardiac atrium	UBERON:0002081	72.14	gold quality
monocyte	CL:0000576	71.65	gold quality
prefrontal cortex	UBERON:0000451	71.59	gold quality
adrenal gland	UBERON:0002369	71.59	gold quality
leukocyte	CL:0000738	71.51	gold quality
left adrenal gland cortex	UBERON:0035825	71.45	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

139 targeting AFG1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795

Literature-anchored findings (GeneRIF, showing 3)

• association between bipolar disorder and two SNPs in the gene LACE1 (PMID:20872768)
• This study establishes LACE1 as a novel factor with a crucial role in mitochondrial protein homeostasis. (PMID:26759378)
• Increased expression of LACE1 partitions p53 to mitochondria, causes reduction in nuclear p53 content and induces apoptosis. Thus, LACE1 mediates mitochondrial translocation of p53 and its transcription-independent apoptosis. (PMID:27323408)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	afg1la	ENSDARG00000011466
mus_musculus	Afg1l	ENSMUSG00000038302
rattus_norvegicus	AABR07045431.1	ENSRNOG00000043033
drosophila_melanogaster	CG8520	FBGN0033734
caenorhabditis_elegans	C30F12.2	WBGENE00016261

Protein

Protein identifiers

AFG1-like ATPase — Q8WV93 (reviewed: Q8WV93)

Alternative names: Lactation elevated protein 1, Protein AFG1 homolog

All UniProt accessions (4): Q8WV93, A6ZJA2, H0Y5F4, H7C448

UniProt curated annotations — full annotation on UniProt →

Function. Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain. Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress.

Subunit / interactions. Found in several complexes of 140-500 kDa. Interacts with YME1L1. Interacts with COX4I1. Interacts with COX5A. Interacts with TP53; mediates mitochondrial translocation of TP53 in response to genotoxic stress such as mitomycin C treatment.

Subcellular location. Mitochondrion membrane.

Similarity. Belongs to the AFG1 ATPase family.

RefSeq proteins (2): NP_001309934, NP_660358* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005654	ATPase_AFG1-like	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF03969

UniProt features (6 total): mutagenesis site 3, binding site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WV93-F1	78.92	0.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 136–143; 209–214

Mutagenesis-validated functional residues (3):

Position	Phenotype
142	does not affect mitochondrial targeting. increased amount of unprocessed protein form. fails to rescue the increased acc
143	reduces mitochondrial targeting. increased amount of unprocessed protein form. reduces mitochondrial targeting; when ass
214	does not affect subcellular location. fails to rescue the increased accumulation of complex iv subunits in afg1l-deficie

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_PROTEIN_CATABOLIC_PROCESS, KONDO_PROSTATE_CANCER_HCP_WITH_H3K27ME3, GOBP_PROTEOLYSIS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOCC_ORGANELLE_ENVELOPE, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, GOBP_PROTEIN_QUALITY_CONTROL_FOR_MISFOLDED_OR_INCOMPLETELY_SYNTHESIZED_PROTEINS, GOBP_MITOCHONDRIAL_PROTEIN_CATABOLIC_PROCESS, BARX1_TARGET_GENES

GO Biological Process (3): mitochondrion organization (GO:0007005), mitochondrial protein catabolic process (GO:0035694), mitochondrial protein quality control (GO:0141164)

GO Molecular Function (5): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	2
cellular anatomical structure	2
organelle organization	1
mitochondrion organization	1
protein catabolic process	1
protein quality control for misfolded or incompletely synthesized proteins	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AFG1L	AFG2A	Q8NB90	984
AFG1L	YME1L1	Q96TA2	536
AFG1L	PACRGL	Q8N7B6	434
AFG1L	KCNQ2	O43526	431
AFG1L	PLAAT5	Q96KN8	420
AFG1L	ZNF280D	Q6N043	416
AFG1L	ALB	P02768	397
AFG1L	DTNBP1	Q96EV8	378
AFG1L	BCAS3	Q9H6U6	377
AFG1L	CYP2A13	Q16696	370
AFG1L	VCP	P55072	367
AFG1L	CLPB	Q9H078	365
AFG1L	ALDH18A1	P54886	353
AFG1L	SDHC	Q99643	351
AFG1L	TEFM	Q96QE5	350

IntAct

12 interactions, top by confidence:

A	B	Type	Score
BANP	AFG1L	psi-mi:“MI:0915”(physical association)	0.560
AFG1L	BANP	psi-mi:“MI:0915”(physical association)	0.560
AFG1L	CIDEB	psi-mi:“MI:0915”(physical association)	0.560
AFG1L	SLC25A6	psi-mi:“MI:0914”(association)	0.350
AFG1L	C1QBP	psi-mi:“MI:0914”(association)	0.350
AFG1L	ALDH1L1	psi-mi:“MI:0914”(association)	0.350
AFG1L	CIDEB	psi-mi:“MI:0915”(physical association)	0.000
AFG1L	gcvP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): LACE1 (Two-hybrid), LACE1 (Affinity Capture-MS), XPNPEP3 (Affinity Capture-MS), ECH1 (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), PMPCB (Affinity Capture-MS), C1QBP (Affinity Capture-MS), DDAH1 (Affinity Capture-MS), CIDEB (Two-hybrid), LACE1 (Affinity Capture-RNA), LACE1 (Proximity Label-MS), LACE1 (Co-fractionation), WDR13 (Co-fractionation), LACE1 (Affinity Capture-MS), LACE1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0B7P9G0, A0A0R4IMY7, A0JPA0, D3ZAA9, O35454, P0C1Q3, P0C588, P16067, P20594, P32232, P33402, P35525, P46197, P47823, P51432, P51788, Q01970, Q13144, Q14168, Q1LWG4, Q32PX9, Q3TWN3, Q3USB7, Q3V384, Q4U2V3, Q502J0, Q5EBA1, Q5U2P1, Q62688, Q66K14, Q69ZF7, Q6P4Q7, Q7L5N7, Q80YD1, Q8BYI6, Q8CIR4, Q8IYB8, Q8K394, Q8WV93, Q91WT9

Diamond homologs: O42895, P32317, P46441, P64612, P64613, Q32PX9, Q3V384, Q5TYS0, Q8WV93

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

101 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	0
Uncertain significance	77
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	Pathogenic
148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	Pathogenic
150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	Pathogenic
1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	Pathogenic
1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	Pathogenic
152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	Pathogenic
2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	Pathogenic
442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	Pathogenic
443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	Pathogenic
563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	Pathogenic
974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	Pathogenic

SpliceAI

2990 predictions. Top by Δscore:

Variant	Effect	Δscore
6:108323822:T:G	acceptor_gain	1.0000
6:108323823:A:AG	acceptor_gain	1.0000
6:108323823:A:T	acceptor_loss	1.0000
6:108323824:G:GA	acceptor_gain	1.0000
6:108323824:GC:G	acceptor_gain	1.0000
6:108323824:GCC:G	acceptor_gain	1.0000
6:108323824:GCCT:G	acceptor_gain	1.0000
6:108323824:GCCTA:G	acceptor_gain	1.0000
6:108324045:AAAG:A	donor_loss	1.0000
6:108324047:AGG:A	donor_loss	1.0000
6:108324048:GGTGA:G	donor_loss	1.0000
6:108324049:G:A	donor_loss	1.0000
6:108355652:A:G	acceptor_gain	1.0000
6:108355756:G:GG	donor_gain	1.0000
6:108356673:A:AG	acceptor_gain	1.0000
6:108356674:A:G	acceptor_gain	1.0000
6:108356679:A:AG	acceptor_gain	1.0000
6:108356679:AT:A	acceptor_gain	1.0000
6:108356680:T:G	acceptor_gain	1.0000
6:108356680:T:TA	acceptor_gain	1.0000
6:108356683:A:AG	acceptor_gain	1.0000
6:108356684:T:G	acceptor_gain	1.0000
6:108356687:AAG:A	acceptor_gain	1.0000
6:108356688:A:AG	acceptor_gain	1.0000
6:108356689:G:GG	acceptor_gain	1.0000
6:108356689:GGA:G	acceptor_gain	1.0000
6:108356819:AGG:A	donor_loss	1.0000
6:108356820:GG:G	donor_loss	1.0000
6:108356822:T:G	donor_loss	1.0000
6:108366330:AAGGT:A	donor_loss	1.0000

AlphaMissense

3168 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:108366314:T:C	S244P	1.000
6:108366315:C:A	S244Y	1.000
6:108366315:C:T	S244F	1.000
6:108366319:C:A	N245K	1.000
6:108366319:C:G	N245K	1.000
6:108347031:G:A	G136E	0.999
6:108347031:G:T	G136V	0.999
6:108347039:G:C	G139R	0.999
6:108355654:G:A	G139D	0.999
6:108355660:G:A	G141E	0.999
6:108355660:G:T	G141V	0.999
6:108355662:A:C	K142Q	0.999
6:108355663:A:T	K142I	0.999
6:108355664:A:C	K142N	0.999
6:108355664:A:T	K142N	0.999
6:108355666:C:T	T143I	0.999
6:108355725:T:C	F163L	0.999
6:108355727:T:A	F163L	0.999
6:108355727:T:G	F163L	0.999
6:108355734:T:C	F166L	0.999
6:108355735:T:C	F166S	0.999
6:108355736:C:A	F166L	0.999
6:108355736:C:G	F166L	0.999
6:108356771:C:A	A200D	0.999
6:108356810:A:C	D213A	0.999
6:108356810:A:G	D213G	0.999
6:108356810:A:T	D213V	0.999
6:108356812:G:A	E214K	0.999
6:108356813:A:C	E214A	0.999
6:108356813:A:G	E214G	0.999

dbSNP variants (sampled 300 via entrez): RS1000002384 (6:108405913 T>A), RS1000010548 (6:108442286 G>C), RS1000013425 (6:108347233 C>G), RS1000015980 (6:108397739 C>T), RS1000025317 (6:108300056 CAA>C), RS1000028183 (6:108339943 A>G), RS1000034336 (6:108357207 T>C), RS1000043671 (6:108310415 T>C,G), RS1000067180 (6:108492838 A>G), RS1000101652 (6:108461976 T>C), RS1000124012 (6:108443840 A>C), RS1000127498 (6:108343165 A>G), RS1000132823 (6:108449003 G>C), RS1000144268 (6:108378727 A>T), RS1000151846 (6:108439825 C>T)

Disease associations

OMIM: gene MIM:617469 | disease phenotypes:

GenCC curated gene-disease

Mondo (3): Charcot-Marie-Tooth disease type 4 (MONDO:0018995), intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149)

Orphanet (2): Charcot-Marie-Tooth disease type 4 (Orphanet:64749), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000252	Microcephaly

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001762_554	Obesity-related traits	6.000000e-06
GCST001942_10	Prostate cancer	8.000000e-09
GCST004364_1	Intelligence	2.000000e-12
GCST004364_19	Intelligence	1.000000e-13
GCST005316_40	Intelligence (MTAG)	2.000000e-08
GCST005316_44	Intelligence (MTAG)	2.000000e-10
GCST006269_676	General cognitive ability	6.000000e-10
GCST006269_902	General cognitive ability	1.000000e-08
GCST012285_4	Hepatitis B	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Aflatoxin B1	decreases expression, increases methylation	2
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
testosterone undecanoate	affects cotreatment, increases expression	1
arsenite	affects binding, increases reaction	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
butylbenzyl phthalate	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Urethane	decreases expression	1
Levonorgestrel	affects cotreatment, increases expression	1
Sodium Selenite	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

211 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders